GET /api/v1/panels/147/?format=api
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{
    "id": 147,
    "hash_id": "5819a24f8f6203341de99c89",
    "name": "Cerebral vascular malformations",
    "disease_group": "Neurology and neurodevelopmental disorders",
    "disease_sub_group": "Cerebrovascular disorders",
    "status": "public",
    "version": "3.16",
    "version_created": "2024-04-24T16:23:20.959409Z",
    "relevant_disorders": [
        "Cerebrovascular disorders",
        "Vein of Galen malformation",
        "Cerebral arteriovenous malformations",
        "Moyamoya disease",
        "R336"
    ],
    "stats": {
        "number_of_genes": 105,
        "number_of_strs": 0,
        "number_of_regions": 0
    },
    "types": [
        {
            "name": "Rare Disease 100K",
            "slug": "rare-disease-100k",
            "description": "Rare Disease 100K"
        },
        {
            "name": "GMS Rare Disease Virtual",
            "slug": "gms-rare-disease-virtual",
            "description": "This is a panel for the Genomic Medicine Service for an exome/genome/panel based test that requires a virtual gene panel for rare disease in the Test Directory."
        },
        {
            "name": "GMS signed-off",
            "slug": "gms-signed-off",
            "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."
        }
    ],
    "genes": [
        {
            "gene_data": {
                "alias": [
                    "ACTSA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:130",
                "gene_name": "actin, alpha 2, smooth muscle, aorta",
                "omim_gene": [
                    "102620"
                ],
                "alias_name": null,
                "gene_symbol": "ACTA2",
                "hgnc_symbol": "ACTA2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:90694831-90751147",
                            "ensembl_id": "ENSG00000107796"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "10:88935074-88991339",
                            "ensembl_id": "ENSG00000107796"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-12-07"
            },
            "entity_type": "gene",
            "entity_name": "ACTA2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services"
            ],
            "phenotypes": [
                "Moyamoya disease 5, OMIM:614042"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "HHT2",
                    "ALK1",
                    "HHT"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:175",
                "gene_name": "activin A receptor like type 1",
                "omim_gene": [
                    "601284"
                ],
                "alias_name": null,
                "gene_symbol": "ACVRL1",
                "hgnc_symbol": "ACVRL1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "12:52300692-52317145",
                            "ensembl_id": "ENSG00000139567"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "12:51906908-51923361",
                            "ensembl_id": "ENSG00000139567"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1994-12-12"
            },
            "entity_type": "gene",
            "entity_name": "ACVRL1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 2, OMIM",
                "600376"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ARP5",
                    "AGF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:23140",
                "gene_name": "angiopoietin like 6",
                "omim_gene": [
                    "609336"
                ],
                "alias_name": [
                    "angiopoietin-related protein 5"
                ],
                "gene_symbol": "ANGPTL6",
                "hgnc_symbol": "ANGPTL6",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "19:10203014-10213472",
                            "ensembl_id": "ENSG00000130812"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "19:10092338-10102796",
                            "ensembl_id": "ENSG00000130812"
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                    }
                },
                "hgnc_date_symbol_changed": "2003-09-24"
            },
            "entity_type": "gene",
            "entity_name": "ANGPTL6",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "29304371",
                "33106390",
                "29304371"
            ],
            "evidence": [
                "NHS GMS",
                "Expert Review Green",
                "Literature"
            ],
            "phenotypes": [
                "brain aneurysm MONDO:0005291"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "gene-checked"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "MGC4607",
                    "OSM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:21708",
                "gene_name": "CCM2 scaffolding protein",
                "omim_gene": [
                    "607929"
                ],
                "alias_name": [
                    "malcavernin",
                    "osmosensing scaffold for MEKK3"
                ],
                "gene_symbol": "CCM2",
                "hgnc_symbol": "CCM2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:45039074-45116068",
                            "ensembl_id": "ENSG00000136280"
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                    },
                    "GRch38": {
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                            "location": "7:44999475-45076469",
                            "ensembl_id": "ENSG00000136280"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-02-18"
            },
            "entity_type": "gene",
            "entity_name": "CCM2",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301470",
                "14624391",
                "31937560"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Cerebral cavernous malformations-2, OMIM:603284"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2201",
                "gene_name": "collagen type III alpha 1 chain",
                "omim_gene": [
                    "120180"
                ],
                "alias_name": null,
                "gene_symbol": "COL3A1",
                "hgnc_symbol": "COL3A1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "2:189839046-189877472",
                            "ensembl_id": "ENSG00000168542"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "2:188974320-189012746",
                            "ensembl_id": "ENSG00000168542"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "COL3A1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "UKGTN"
            ],
            "phenotypes": [
                "Ehlers-Danlos syndrome, vascular type, OMIM:130050"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "END",
                    "HHT1",
                    "CD105"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3349",
                "gene_name": "endoglin",
                "omim_gene": [
                    "131195"
                ],
                "alias_name": null,
                "gene_symbol": "ENG",
                "hgnc_symbol": "ENG",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "9:130577291-130617035",
                            "ensembl_id": "ENSG00000106991"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "9:127815012-127854756",
                            "ensembl_id": "ENSG00000106991"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-03-03"
            },
            "entity_type": "gene",
            "entity_name": "ENG",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301525",
                "15024723"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen",
                "Other"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GC-SA3"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4685",
                "gene_name": "guanylate cyclase 1 soluble subunit alpha",
                "omim_gene": [
                    "139396"
                ],
                "alias_name": null,
                "gene_symbol": "GUCY1A3",
                "hgnc_symbol": "GUCY1A3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:156587863-156653501",
                            "ensembl_id": "ENSG00000164116"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:155666711-155732349",
                            "ensembl_id": "ENSG00000164116"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1993-11-09"
            },
            "entity_type": "gene",
            "entity_name": "GUCY1A3",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "24581742",
                "26777256"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "Other",
                "Expert list"
            ],
            "phenotypes": [
                "Moyamoya 6 with achalasia, OMIM:615750"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "new-gene-name"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CAM"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1573",
                "gene_name": "KRIT1, ankyrin repeat containing",
                "omim_gene": [
                    "604214"
                ],
                "alias_name": null,
                "gene_symbol": "KRIT1",
                "hgnc_symbol": "KRIT1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:91828283-91875480",
                            "ensembl_id": "ENSG00000001631"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "7:92198969-92246166",
                            "ensembl_id": "ENSG00000001631"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-03-17"
            },
            "entity_type": "gene",
            "entity_name": "KRIT1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10508515",
                "20301470"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebral cavernous malformations-1, OMIM:116860",
                "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, OMIM:116860",
                "Cavernous malformations of CNS and retina, OMIM:116860"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "TFAR15"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:8761",
                "gene_name": "programmed cell death 10",
                "omim_gene": [
                    "609118"
                ],
                "alias_name": null,
                "gene_symbol": "PDCD10",
                "hgnc_symbol": "PDCD10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:167401086-167452727",
                            "ensembl_id": "ENSG00000114209"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:167683298-167734939",
                            "ensembl_id": "ENSG00000114209"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1999-12-10"
            },
            "entity_type": "gene",
            "entity_name": "PDCD10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "20301470",
                "15543491"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Emory Genetics Laboratory",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Cerebral cavernous malformations 3, OMIM:603285"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GAP",
                    "CM-AVM",
                    "p120GAP",
                    "p120RASGAP",
                    "p120"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9871",
                "gene_name": "RAS p21 protein activator 1",
                "omim_gene": [
                    "139150"
                ],
                "alias_name": [
                    "capillary malformation-arteriovenous malformation",
                    "p120 RAS GTPase activating protein"
                ],
                "gene_symbol": "RASA1",
                "hgnc_symbol": "RASA1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "5:86563705-86687748",
                            "ensembl_id": "ENSG00000145715"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "5:87267888-87391931",
                            "ensembl_id": "ENSG00000145715"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "RASA1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "14639529"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Other",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation 1, OMIM:608354"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA1554",
                    "NET57"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:14539",
                "gene_name": "ring finger protein 213",
                "omim_gene": [
                    "613768"
                ],
                "alias_name": null,
                "gene_symbol": "RNF213",
                "hgnc_symbol": "RNF213",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:78234665-78372586",
                            "ensembl_id": "ENSG00000173821"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "17:80260866-80398786",
                            "ensembl_id": "ENSG00000173821"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2007-02-08"
            },
            "entity_type": "gene",
            "entity_name": "RNF213",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21048783"
            ],
            "evidence": [
                "Expert Review Green",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert list",
                "Other"
            ],
            "phenotypes": [
                "{Moyamoya disease 2, susceptibility to}, OMIM:607151"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SBBI88",
                    "Mg11",
                    "HDDC1",
                    "MOP-5",
                    "AGS5"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:15925",
                "gene_name": "SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1",
                "omim_gene": [
                    "606754"
                ],
                "alias_name": [
                    "HD domain containing 1",
                    "monocyte protein 5",
                    "Aicardi-Goutieres syndrome 5"
                ],
                "gene_symbol": "SAMHD1",
                "hgnc_symbol": "SAMHD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:35518632-35580246",
                            "ensembl_id": "ENSG00000101347"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:36890229-36951843",
                            "ensembl_id": "ENSG00000101347"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-07-31"
            },
            "entity_type": "gene",
            "entity_name": "SAMHD1",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21402907",
                "20653736"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Moyamoya disease, MONDO:0016820"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "GLUT10"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:13444",
                "gene_name": "solute carrier family 2 member 10",
                "omim_gene": [
                    "606145"
                ],
                "alias_name": null,
                "gene_symbol": "SLC2A10",
                "hgnc_symbol": "SLC2A10",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "20:45338126-45364965",
                            "ensembl_id": "ENSG00000197496"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "20:46709487-46736347",
                            "ensembl_id": "ENSG00000197496"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-04-02"
            },
            "entity_type": "gene",
            "entity_name": "SLC2A10",
            "confidence_level": "3",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "16550171"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Arterial tortuosity syndrome, OMIM:208050"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "DPC4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6770",
                "gene_name": "SMAD family member 4",
                "omim_gene": [
                    "600993"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD4",
                "hgnc_symbol": "SMAD4",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "18:48494410-48611415",
                            "ensembl_id": "ENSG00000141646"
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                    },
                    "GRch38": {
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                },
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            },
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            "penetrance": "Complete",
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN",
                "Emory Genetics Laboratory"
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                "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, OMIM:175050"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
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            "transcript": null
        },
        {
            "gene_data": {
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                    "YY1AP",
                    "HCCA2",
                    "YAP"
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                    "607860"
                ],
                "alias_name": null,
                "gene_symbol": "YY1AP1",
                "hgnc_symbol": "YY1AP1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "1:155629237-155658791",
                            "ensembl_id": "ENSG00000163374"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "1:155659443-155689000",
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                    }
                },
                "hgnc_date_symbol_changed": "2005-02-09"
            },
            "entity_type": "gene",
            "entity_name": "YY1AP1",
            "confidence_level": "3",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Green",
                "Expert list"
            ],
            "phenotypes": [
                "Grange syndrome, OMIM:602531"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "ADGF"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1839",
                "gene_name": "adenosine deaminase 2",
                "omim_gene": [
                    "607575"
                ],
                "alias_name": null,
                "gene_symbol": "ADA2",
                "hgnc_symbol": "ADA2",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "22:17660194-17702879",
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                    },
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                },
                "hgnc_date_symbol_changed": "2017-02-16"
            },
            "entity_type": "gene",
            "entity_name": "ADA2",
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            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "3471198",
                "25528372",
                "33791889",
                "36528591"
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            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Literature",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "?Sneddon syndrome, OMIM:182410",
                "Polyarteritis nodosa, MONDO:0019170"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
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                    "SCKL",
                    "SCKL1",
                    "MEC1"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:882",
                "gene_name": "ATR serine/threonine kinase",
                "omim_gene": [
                    "601215"
                ],
                "alias_name": [
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                "gene_symbol": "ATR",
                "hgnc_symbol": "ATR",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "3:142168077-142297668",
                            "ensembl_id": "ENSG00000175054"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000175054"
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                    }
                },
                "hgnc_date_symbol_changed": "1998-04-06"
            },
            "entity_type": "gene",
            "entity_name": "ATR",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
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                "12640452"
            ],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Literature",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Seckel syndrome 1, OMIM:210600"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "RNF55",
                    "c-Cbl"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1541",
                "gene_name": "Cbl proto-oncogene",
                "omim_gene": [
                    "165360"
                ],
                "alias_name": [
                    "oncogene CBL2"
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                "gene_symbol": "CBL",
                "hgnc_symbol": "CBL",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "11:119076752-119178859",
                            "ensembl_id": "ENSG00000110395"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "11:119206276-119313926",
                            "ensembl_id": "ENSG00000110395"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-30"
            },
            "entity_type": "gene",
            "entity_name": "CBL",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
                "28343148",
                "25283271",
                "28589114"
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            "evidence": [
                "Yorkshire and North East GLH",
                "Expert Review Amber",
                "NHS GMS",
                "Research",
                "Literature"
            ],
            "phenotypes": [
                "early-onset moyamoya angiopathy",
                "moyamoya disease, MONDO:0016820",
                "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KIAA0912",
                    "SCKL5",
                    "MCPH9"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:29298",
                "gene_name": "centrosomal protein 152",
                "omim_gene": [
                    "613529"
                ],
                "alias_name": [
                    "asterless"
                ],
                "gene_symbol": "CEP152",
                "hgnc_symbol": "CEP152",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                        "82": {
                            "location": "15:49005125-49103343",
                            "ensembl_id": "ENSG00000103995"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "15:48712928-48811146",
                            "ensembl_id": "ENSG00000103995"
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                    }
                },
                "hgnc_date_symbol_changed": "2005-12-01"
            },
            "entity_type": "gene",
            "entity_name": "CEP152",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "21131973"
            ],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen",
                "Illumina TruGenome Clinical Sequencing Services",
                "UKGTN"
            ],
            "phenotypes": [
                "Seckel syndrome 5, OMIM:613823"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Mi-2b",
                    "Mi2-BETA"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:1919",
                "gene_name": "chromodomain helicase DNA binding protein 4",
                "omim_gene": [
                    "603277"
                ],
                "alias_name": null,
                "gene_symbol": "CHD4",
                "hgnc_symbol": "CHD4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "12:6679249-6716642",
                            "ensembl_id": "ENSG00000111642"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "12:6570083-6607476",
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                    }
                },
                "hgnc_date_symbol_changed": "1998-03-20"
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            "entity_type": "gene",
            "entity_name": "CHD4",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31474762",
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                "27479907",
                "28991257"
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            "evidence": [
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                "Literature"
            ],
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                "Sifrim-Hitz-Weiss syndrome OMIM:617159",
                "Sifrim-Hitz-Weiss syndrome MONDO:0014946"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "to_be_confirmed_NHSE",
                "watchlist"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "NOT3H",
                    "KIAA0691",
                    "LENG2"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7879",
                "gene_name": "CCR4-NOT transcription complex subunit 3",
                "omim_gene": [
                    "604910"
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                "alias_name": [
                    "NOT3 (negative regulator of transcription 3, yeast) homolog"
                ],
                "gene_symbol": "CNOT3",
                "hgnc_symbol": "CNOT3",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                            "location": "19:54641444-54659419",
                            "ensembl_id": "ENSG00000088038"
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000088038"
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                    }
                },
                "hgnc_date_symbol_changed": "1996-07-19"
            },
            "entity_type": "gene",
            "entity_name": "CNOT3",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31474762"
            ],
            "evidence": [
                "Expert Review Amber",
                "Literature"
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            "phenotypes": [
                "Moyamoya disease MONDO:0016820",
                "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies OMIM:618672",
                "intellectual developmental disorder with speech delay, autism, and dysmorphic facies MONDO:0032864"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "to_be_confirmed_NHSE"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:2209",
                "gene_name": "collagen type V alpha 1 chain",
                "omim_gene": [
                    "120215"
                ],
                "alias_name": [
                    "alpha 1 type V collagen"
                ],
                "gene_symbol": "COL5A1",
                "hgnc_symbol": "COL5A1",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
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                        "82": {
                            "location": "9:137533620-137736686",
                            "ensembl_id": "ENSG00000130635"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "9:134641774-134844843",
                            "ensembl_id": "ENSG00000130635"
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                    }
                },
                "hgnc_date_symbol_changed": "1992-02-26"
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            "entity_type": "gene",
            "entity_name": "COL5A1",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
            "publications": [
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                "32938213",
                "33189937",
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            "evidence": [
                "Expert Review Amber",
                "Radboud University Medical Center, Nijmegen"
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            "phenotypes": [
                "Ehlers-Danlos syndrome, classic type, 1, OMIM:130000",
                "Fibromuscular dysplasia, multifocal, OMIM:619329"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "Q2_24_promote_green"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "Tyro11"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:3395",
                "gene_name": "EPH receptor B4",
                "omim_gene": [
                    "600011"
                ],
                "alias_name": null,
                "gene_symbol": "EPHB4",
                "hgnc_symbol": "EPHB4",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "7:100400187-100425121",
                            "ensembl_id": "ENSG00000196411"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "7:100802565-100827521",
                            "ensembl_id": "ENSG00000196411"
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                    }
                },
                "hgnc_date_symbol_changed": "1994-12-15"
            },
            "entity_type": "gene",
            "entity_name": "EPHB4",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Expert list"
            ],
            "phenotypes": [
                "Capillary malformation-arteriovenous malformation 2, OMIM:618196"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ20371",
                    "MFSD7C"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:20105",
                "gene_name": "feline leukemia virus subgroup C cellular receptor family member 2",
                "omim_gene": [
                    "610865"
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                "alias_name": null,
                "gene_symbol": "FLVCR2",
                "hgnc_symbol": "FLVCR2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "14:76044960-76129557",
                            "ensembl_id": "ENSG00000119686"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "14:75578617-75663214",
                            "ensembl_id": "ENSG00000119686"
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                    }
                },
                "hgnc_date_symbol_changed": "2007-05-01"
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            "entity_type": "gene",
            "entity_name": "FLVCR2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20206334"
            ],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen",
                "UKGTN"
            ],
            "phenotypes": [
                "Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome, OMIM:225790"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "BMP-9",
                    "BMP9"
                ],
                "biotype": null,
                "hgnc_id": "HGNC:4217",
                "gene_name": "growth differentiation factor 2",
                "omim_gene": [
                    "605120"
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                "alias_name": null,
                "gene_symbol": "GDF2",
                "hgnc_symbol": "GDF2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "10:48413092-48416853",
                            "ensembl_id": "ENSG00000128802"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "10:47322490-47326270",
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                    }
                },
                "hgnc_date_symbol_changed": "1997-09-12"
            },
            "entity_type": "gene",
            "entity_name": "GDF2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Emory Genetics Laboratory",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "CD113t-C",
                    "beta-globin"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:4827",
                "gene_name": "hemoglobin subunit beta",
                "omim_gene": [
                    "141900"
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                "alias_name": null,
                "gene_symbol": "HBB",
                "hgnc_symbol": "HBB",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
                    "GRch38": {
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                            "ensembl_id": "ENSG00000244734"
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                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "HBB",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "20301551"
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            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Radboud University Medical Center, Nijmegen",
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                "Literature",
                "Emory Genetics Laboratory"
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            "phenotypes": [
                "Sickle cell anemia, OMIM:603903"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "gene-therapy-trial"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "JAW1L",
                    "IRAG"
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                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7237",
                "gene_name": "murine retrovirus integration site 1 homolog",
                "omim_gene": [
                    "604673"
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                "alias_name": [
                    "inositol 1,4,5-triphosphate-associated cGMP kinase substrate",
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                "hgnc_symbol": "MRVI1",
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                "ensembl_genes": {
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                            "location": "11:10594638-10715535",
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                    },
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                },
                "hgnc_date_symbol_changed": "1999-06-10"
            },
            "entity_type": "gene",
            "entity_name": "MRVI1",
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            "mode_of_pathogenicity": null,
            "publications": [],
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Expert list"
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            "phenotypes": [],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "new-gene-name"
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            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SMMHC",
                    "SMHC"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7569",
                "gene_name": "myosin heavy chain 11",
                "omim_gene": [
                    "160745"
                ],
                "alias_name": null,
                "gene_symbol": "MYH11",
                "hgnc_symbol": "MYH11",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "16:15797029-15950890",
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                    },
                    "GRch38": {
                        "90": {
                            "location": "16:15703172-15857033",
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                },
                "hgnc_date_symbol_changed": "1991-09-13"
            },
            "entity_type": "gene",
            "entity_name": "MYH11",
            "confidence_level": "2",
            "penetrance": "unknown",
            "mode_of_pathogenicity": null,
            "publications": [
                "29263223",
                "16444274"
            ],
            "evidence": [
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Literature"
            ],
            "phenotypes": [
                "moyamoya-like angiopath",
                "Aortic aneurysm, familial thoracic 4, OMIM:132900"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:7765",
                "gene_name": "neurofibromin 1",
                "omim_gene": [
                    "613113"
                ],
                "alias_name": [
                    "neurofibromatosis",
                    "von Recklinghausen disease",
                    "Watson disease"
                ],
                "gene_symbol": "NF1",
                "hgnc_symbol": "NF1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "17:29421945-29709134",
                            "ensembl_id": "ENSG00000196712"
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                    },
                    "GRch38": {
                        "90": {
                            "location": "17:31094927-31382116",
                            "ensembl_id": "ENSG00000196712"
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                    }
                },
                "hgnc_date_symbol_changed": "1986-01-01"
            },
            "entity_type": "gene",
            "entity_name": "NF1",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "10754001"
            ],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert list"
            ],
            "phenotypes": [
                "Moyamoya disease, MONDO:0016820",
                "Neurofibromatosis, type 1, OMIM:162200"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "KEN",
                    "KIAA0402",
                    "PCN",
                    "PCNTB",
                    "SCKL4"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:16068",
                "gene_name": "pericentrin",
                "omim_gene": [
                    "605925"
                ],
                "alias_name": [
                    "kendrin",
                    "Seckel syndrome 4"
                ],
                "gene_symbol": "PCNT",
                "hgnc_symbol": "PCNT",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "21:47744036-47865682",
                            "ensembl_id": "ENSG00000160299"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "21:46324122-46445769",
                            "ensembl_id": "ENSG00000160299"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2005-11-03"
            },
            "entity_type": "gene",
            "entity_name": "PCNT",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [
                "15368497"
            ],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert list"
            ],
            "phenotypes": [
                "Moyamoya disease, MONDO:0016820",
                "Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PBP",
                    "Pc-1",
                    "TRPP1"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9008",
                "gene_name": "polycystin 1, transient receptor potential channel interacting",
                "omim_gene": [
                    "601313"
                ],
                "alias_name": [
                    "polycystin 1",
                    "transient receptor potential cation channel, subfamily P, member 1"
                ],
                "gene_symbol": "PKD1",
                "hgnc_symbol": "PKD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "16:2138711-2185899",
                            "ensembl_id": "ENSG00000008710"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "16:2088710-2135898",
                            "ensembl_id": "ENSG00000008710"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2001-06-22"
            },
            "entity_type": "gene",
            "entity_name": "PKD1",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen"
            ],
            "phenotypes": [
                "Polycystic kidney disease, adult type I, OMIM:173900"
            ],
            "mode_of_inheritance": "BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "PKD4",
                    "PC2",
                    "Pc-2",
                    "TRPP2"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:9009",
                "gene_name": "polycystin 2, transient receptor potential cation channel",
                "omim_gene": [
                    "173910"
                ],
                "alias_name": [
                    "transient receptor potential cation channel, subfamily P, member 2"
                ],
                "gene_symbol": "PKD2",
                "hgnc_symbol": "PKD2",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
                    "GRch37": {
                        "82": {
                            "location": "4:88928820-88998929",
                            "ensembl_id": "ENSG00000118762"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "4:88007668-88077777",
                            "ensembl_id": "ENSG00000118762"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "1988-08-07"
            },
            "entity_type": "gene",
            "entity_name": "PKD2",
            "confidence_level": "2",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Amber",
                "Yorkshire and North East GLH",
                "NHS GMS",
                "UKGTN",
                "Radboud University Medical Center, Nijmegen",
                "Emory Genetics Laboratory"
            ],
            "phenotypes": [
                "Polycystic kidney disease 2, OMIM:613095"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "FLJ10707"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:25566",
                "gene_name": "SET domain containing 5",
                "omim_gene": [
                    "615743"
                ],
                "alias_name": null,
                "gene_symbol": "SETD5",
                "hgnc_symbol": "SETD5",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "3:9439299-9520924",
                            "ensembl_id": "ENSG00000168137"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "3:9397615-9479240",
                            "ensembl_id": "ENSG00000168137"
                        }
                    }
                },
                "hgnc_date_symbol_changed": "2006-02-15"
            },
            "entity_type": "gene",
            "entity_name": "SETD5",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [
                "31474762",
                "24680889",
                "23020937",
                "25138099"
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            "evidence": [
                "Expert Review Amber",
                "Literature"
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            "phenotypes": [
                "Moyamoya disease MONDO:0016820",
                "Mental retardation, autosomal dominant 23 OMIM:615761",
                "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO:0014336"
            ],
            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "tags": [
                "watchlist",
                "to_be_confirmed_NHSE"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [
                    "SMAD8",
                    "SMAD8/9"
                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:6774",
                "gene_name": "SMAD family member 9",
                "omim_gene": [
                    "603295"
                ],
                "alias_name": null,
                "gene_symbol": "SMAD9",
                "hgnc_symbol": "SMAD9",
                "hgnc_release": "2017-11-03",
                "ensembl_genes": {
                    "GRch37": {
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                            "location": "13:37418968-37494902",
                            "ensembl_id": "ENSG00000120693"
                        }
                    },
                    "GRch38": {
                        "90": {
                            "location": "13:36844831-36920765",
                            "ensembl_id": "ENSG00000120693"
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                    }
                },
                "hgnc_date_symbol_changed": "2004-05-26"
            },
            "entity_type": "gene",
            "entity_name": "SMAD9",
            "confidence_level": "2",
            "penetrance": null,
            "mode_of_pathogenicity": null,
            "publications": [],
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Amber",
                "Expert list"
            ],
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            "tags": [],
            "transcript": null
        },
        {
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                ],
                "biotype": "protein_coding",
                "hgnc_id": "HGNC:17754",
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                "omim_gene": [
                    "616821"
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                "alias_name": null,
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                "hgnc_symbol": "THSD1",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {
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                    },
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                "hgnc_date_symbol_changed": "2003-01-24"
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            "entity_type": "gene",
            "entity_name": "THSD1",
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            "evidence": [
                "Expert Review Amber",
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                "NHS GMS",
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            "phenotypes": [
                "subarachnoid hemorrhage"
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            "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
            "tags": [],
            "transcript": null
        },
        {
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                    "EST349056",
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                    "URG7"
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                "hgnc_symbol": "ABCC6",
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                },
                "hgnc_date_symbol_changed": "1997-10-27"
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            "entity_type": "gene",
            "entity_name": "ABCC6",
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "Expert list"
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            "mode_of_inheritance": "Unknown",
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        },
        {
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                    "CD143"
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                    }
                },
                "hgnc_date_symbol_changed": "1989-06-06"
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            "entity_type": "gene",
            "entity_name": "ACE",
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                "NHS GMS",
                "Expert Review Red",
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            "mode_of_inheritance": "",
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        },
        {
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                    "TM7XN1"
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            "entity_type": "gene",
            "entity_name": "ADGRG1",
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
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            "mode_of_inheritance": "",
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        },
        {
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                    "FLJ21776",
                    "FLJ10601",
                    "ATR"
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            "entity_type": "gene",
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        },
        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
                "Expert Review Red",
                "UKGTN"
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            "mode_of_inheritance": "",
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        },
        {
            "gene_data": {
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                "biotype": "protein_coding",
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                "hgnc_symbol": "ATP7A",
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                "hgnc_date_symbol_changed": "1986-01-01"
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            "entity_type": "gene",
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                "Expert Review Red",
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        },
        {
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        {
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        },
        {
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                "Radboud University Medical Center, Nijmegen"
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                "{Hemorrhage, intracerebral, susceptibility to}"
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            "penetrance": "Complete",
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                "Expert Review Red",
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        {
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        {
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                "Yorkshire and North East GLH",
                "NHS GMS",
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        {
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                "Yorkshire and North East GLH",
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        {
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        {
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        {
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                "Yorkshire and North East GLH",
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        {
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                "hgnc_id": "HGNC:3809",
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            "entity_type": "gene",
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        {
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                "Yorkshire and North East GLH",
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                "Glomuvenous Malformation"
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        {
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                "hgnc_id": "HGNC:4390",
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                "omim_gene": [
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                "Yorkshire and North East GLH",
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                "Expert Review Red",
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        {
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            "entity_type": "gene",
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                "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779"
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                "gene_symbol": "IL6",
                "hgnc_symbol": "IL6",
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            "entity_type": "gene",
            "entity_name": "IL6",
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                "NHS GMS",
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        {
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            "entity_type": "gene",
            "entity_name": "JAG1",
            "confidence_level": "1",
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                "22759690",
                "22759690"
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        {
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                "Hemangioma, capillary infantile, somatic, 602089"
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        {
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                "Expert Review Red",
                "UKGTN"
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            ],
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                "Moyamoya disease"
            ],
            "mode_of_inheritance": "BIALLELIC, autosomal or pseudoautosomal",
            "tags": [
                "locus-type-phenotype-only",
                "ensembl_ids_known_missing",
                "curated_removed"
            ],
            "transcript": null
        },
        {
            "gene_data": {
                "alias": [],
                "biotype": null,
                "hgnc_id": "HGNC:20769",
                "gene_name": "moyamoya disease 3",
                "omim_gene": [
                    "608796"
                ],
                "alias_name": null,
                "gene_symbol": "MYMY3",
                "hgnc_symbol": "MYMY3",
                "hgnc_release": "2017-11-03T00:00:00",
                "ensembl_genes": {},
                "hgnc_date_symbol_changed": "2004-11-22"
            },
            "entity_type": "gene",
            "entity_name": "MYMY3",
            "confidence_level": "0",
            "penetrance": "Complete",
            "mode_of_pathogenicity": "",
            "publications": [],
            "evidence": [
                "Expert Review Removed",
                "Other"
            ],
            "phenotypes": [
                "Moyamoya disease 3"
            ],
            "mode_of_inheritance": "Unknown",
            "tags": [
                "locus-type-phenotype-only",
                "ensembl_ids_known_missing",
                "curated_removed"
            ],
            "transcript": null
        }
    ],
    "strs": [],
    "regions": []
}